Abstract
Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.
| Original language | English |
|---|---|
| Pages (from-to) | 1373-1376 |
| Number of pages | 4 |
| Journal | Neurology |
| Volume | 54 |
| Issue number | 6 |
| Publication status | Published - Mar 28 2000 |
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Keywords
- CAV3 gene HyperCKemia
- Caveolin-3
ASJC Scopus subject areas
- Neuroscience(all)
Cite this
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. / Carbone, I.; Bruno, C.; Sotgia, F.; Bado, M.; Broda, P.; Masetti, E.; Panella, A.; Zara, F.; Bricarelli, F. Dagna; Cordone, G.; Lisanti, M. P.; Minetti, Carlo.
In: Neurology, Vol. 54, No. 6, 28.03.2000, p. 1373-1376.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
AU - Carbone, I.
AU - Bruno, C.
AU - Sotgia, F.
AU - Bado, M.
AU - Broda, P.
AU - Masetti, E.
AU - Panella, A.
AU - Zara, F.
AU - Bricarelli, F. Dagna
AU - Cordone, G.
AU - Lisanti, M. P.
AU - Minetti, Carlo
PY - 2000/3/28
Y1 - 2000/3/28
N2 - Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.
AB - Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.
KW - CAV3 gene HyperCKemia
KW - Caveolin-3
UR - http://www.scopus.com/inward/record.url?scp=17044449846&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=17044449846&partnerID=8YFLogxK
M3 - Article
C2 - 10746614
AN - SCOPUS:17044449846
VL - 54
SP - 1373
EP - 1376
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 6
ER -